Actively Recruiting
Next Generation Sequencing Analysis of Patients with Spontaneous Dissection of Cervical Arteries
Led by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Updated on 2025-03-06
145
Participants Needed
1
Research Sites
313 weeks
Total Duration
On this page
Sponsors
F
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Lead Sponsor
I
IRCCS National Neurological Institute "C. Mondino" Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
The goal of this observational study is to analyze the existence of a genetic predisposition in patients with spontaneous dissections of the cervical arteries (SCeAD). The main questions it aims to answer are: 1. Which is the prevalence of pathogenic variants in genes coding for proteins involved in the structure or function of the connective tissue in adult patients with spontaneous dissections of the cervical arteries? 2. Which are the clinical characteristics of each single genetic variant identified? 3. Which are the clinical, radiological, laboratory variables associated with the finding of a pathogenic variant? 4. Are there differences between patients with SCeAD who have a pathogenic variant in a gene coding for proteins involved in the structure or function of the connective tissue and those who not? 5. There are differences in the risk of SCeAD recurrence between patients with SCeAD who have a pathogenic variant in a gene coding for proteins involved in the structure or function of the connective tissue and those who not? 6. There are differences in the risk of SCeAD recurrence based on the specific typology of genetic variant found? Participants will be asked to undergo: * a whole-CT total-body with contrast; * a dysmorphological visit; * a blood sampling for genetic testing; * a neurological visit; * Some follow-up visits.
CONDITIONS
Official Title
Next Generation Sequencing Analysis of Patients with Spontaneous Dissection of Cervical Arteries
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged 18 years or older
- Presence of dissection in one or more cervical arteries (carotid or vertebrobasilar), confirmed by imaging showing intramural hematoma, pseudoaneurysmal dilation, intimal flap, double lumen, or long tapering stenosis or occlusion above the carotid bifurcation
- At least one of the following: radiological evidence of vessel wall abnormalities in other vascular districts, family history of vessel dissections or early cardiovascular/cerebrovascular diseases, spontaneous organ perforation or connective tissue laxity, or clinical signs of connective tissue disease such as a Beighton score ≥5 or Marfan score ≥7
- Provided written informed consent
You will not qualify if you...
- Recent trauma clearly linked to the dissection
- Dissection caused by an endovascular procedure
- Dissection occurring only inside the brain vessels
- Diagnosis of fibromuscular dysplasia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Fondazione Policlinico Universitario A. Gemelli IRCCS
Rome, Lazio, Italy, 00168
Actively Recruiting
Research Team
G
Giovanni Frisullo, MD, PhD
CONTACT
I
Irene Scala, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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